G9R (p.Gly9Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
G9R (p.Gly9Arg) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G9R (p.Gly9Arg) variant details
- p.Gly9Arg
- gnomAD rs746540197
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.35
- CADD 18.90
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available